GJB2-associated hearing loss undetected by hearing screening of newborns

Minami, Shujiro; Mutai, Hideki; Nakano, Atsuko; Arimoto, Yukiko; Taiji, Hidenobu; Morimoto, Noriko; Sakata, Hideaki; Adachi, Nobuaki; Masuda, Sawako; Sakamoto, Hirokazu; Yoshida, Haruo; Tanaka, Fujinobu; Morita, Noriko; Sugiuchi, Tomoko; Kaga, Kimitaka; Matsunaga, Tatsuo

doi:10.1016/j.gene.2013.08.094

Cited by 42 publications

(31 citation statements)

References 31 publications

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“…Moreover, it has been documented that some hearing-impaired patients with GJB2 (ref. 13) or SLC26A4 (ref. 14) mutations passed newborn hearing screening at birth.…”

Section: Introductionmentioning

confidence: 99%

Newborn genetic screening for hearing impairment: a population-based longitudinal study

Tsai

Hung

et al. 2017

Genetics in Medicine

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“…Moreover, it has been documented that some hearing-impaired patients with GJB2 (ref. 13) or SLC26A4 (ref. 14) mutations passed newborn hearing screening at birth.…”

Section: Introductionmentioning

confidence: 99%

Newborn genetic screening for hearing impairment: a population-based longitudinal study

Tsai

Hung

et al. 2017

Genetics in Medicine

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“…davinc.crg.es/deafness), and hearing loss ranges from mild to profound according to differences in the genotype; therefore, genotype-phenotype correlations are well documented, and this type of hearing loss is thought to be nonprogressive. Detailed audiological features, including genotype-phenotype correlations and progression, in patients with these mutations have been well studied [Snoeckx et al, 2005;Tsukada et al, 2010;Minami et al, 2013;Chan and Chang, 2014].…”

Section: Introductionmentioning

confidence: 99%

Vestibular Functions of Hereditary Hearing Loss Patients with <b><i>GJB2</i></b> Mutations

Tsukada¹,

Fukuoka²,

Usami³

2015

Audiol Neurotol

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Objectives: Mutations in the GJB2 gene have been of particular interest as it is the most common causative gene for congenital deafness in all populations. Detailed audiological features, including genotype-phenotype correlations, have been well documented. However, in spite of abundant gene as well as protein expression in the vestibular end organs, neither vestibular symptoms nor vestibular functions have yet been elucidated. In the present study, vestibular functions were evaluated in patients diagnosed with GJB2-related deafness. Subjects and Methods: Vestibular functions were evaluated by caloric test and cervical vestibular evoked myogenic potential (cVEMP) testing in 24 patients with biallelic GJB2 mutations. Results and Discussion: Twenty-one of 23 patients (91.3%) had normal caloric responses and significantly lower cVEMP amplitudes than the control subjects. In the patients who were able to undergo vestibular testing, the mostly normal reactions to caloric testing indicated that the lateral semicircular canal was intact. However, the majority of GJB2 patients showed low cVEMP reactions, indicating a saccular defect.

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“…At this time, it may not be possible to differentiate between neonatal and late-onset hearing loss. 16,17 Obtaining quality data on the sensitivity of a hearing screening program is complex and counterintuitive: the study has to focus on infants who passed the screening, the study sample needs to be large enough to include a sufficient number of confirmed hearing loss cases, and the screening results need to be compared with a diagnostic evaluation within a short time interval. The current study was designed to overcome these obstacles.…”

Section: Discussionmentioning

confidence: 99%

Sensitivity of the Automated Auditory Brainstem Response in Neonatal Hearing Screening

2015

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GJB2-associated hearing loss undetected by hearing screening of newborns

Cited by 42 publications

References 31 publications

Newborn genetic screening for hearing impairment: a population-based longitudinal study

Newborn genetic screening for hearing impairment: a population-based longitudinal study

Vestibular Functions of Hereditary Hearing Loss Patients with <b><i>GJB2</i></b> Mutations

Sensitivity of the Automated Auditory Brainstem Response in Neonatal Hearing Screening

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